A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness

由 Mégarbané, André, Slim, Rima, Nürnberg, Gudrun, Ebermann, Inga, Nürnberg, Peter, Bolz, Hanno Jörn
出版 2009

Mutation of Solute Carrier SLC16A12 Associates with a Syndrome Combining Juvenile Cataract with Microcornea and Renal Glucosuria

由 Kloeckener-Gruissem, Barbara, Vandekerckhove, Kristof, Nürnberg, Gudrun, Neidhardt, John, Zeitz, Christina, Nürnberg, Peter, Schipper, Isaak, Berger, Wolfgang
出版 2008

Homozygosity Mapping and Whole Exome Sequencing Reveal a Novel Homozygous COL18A1 Mutation Causing Knobloch Syndrome

由 Haghighi, Alireza, Tiwari, Amit, Piri, Niloofar, Nürnberg, Gudrun, Saleh-Gohari, Nasrollah, Haghighi, Amirreza, Neidhardt, John, Nürnberg, Peter, Berger, Wolfgang
發表在 PLoS One (2014)

Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure

由 Bendon, Charlotte L, Fenwick, Aimée L, Hurst, Jane A, Nürnberg, Gudrun, Nürnberg, Peter, Wall, Steven A, Wilkie, Andrew OM, Johnson, David
出版 2012

Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts

由 Ahmad, Adeel, Daud, Shakeela, Kakar, Naseebullah, Nürnberg, Gudrun, Nürnberg, Peter, Babar, Masroor Ellahi, Thoenes, Michaela, Kubisch, Christian, Ahmad, Jamil, Bolz, Hanno Jörn
出版 2011

Genomewide Scan in German Families Reveals Evidence for a Novel Psoriasis-Susceptibility Locus on Chromosome 19p13

由 Lee, Young-Ae, Rüschendorf, Franz, Windemuth, Christine, Schmitt-Egenolf, Marcus, Stadelmann, Antje, Nürnberg, Gudrun, Ständer, Markward, Wienker, Thomas F., Reis, André, Traupe, Heiko
出版 2000

Cerebral Arterial Stenoses and Stroke: Novel Features of Aicardi-Goutières Syndrome Caused by the Arg164X Mutation in SAMHD1 Are Associated with Altered Cytokine Expression

由 Thiele, Holger, du Moulin, Marcel, Barczyk, Katarzyna, George, Christel, Schwindt, Wolfram, Nürnberg, Gudrun, Frosch, Michael, Kurlemann, Gerhard, Roth, Johannes, Nürnberg, Peter, Rutsch, Frank
出版 2010

Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3

由 Eisenberger, Tobias, Slim, Rima, Mansour, Ahmad, Nauck, Markus, Nürnberg, Gudrun, Nürnberg, Peter, Decker, Christian, Dafinger, Claudia, Ebermann, Inga, Bergmann, Carsten, Bolz, Hanno Jörn
出版 2012

A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula

由 Khan, Arif O., Becirovic, Elvir, Betz, Christian, Neuhaus, Christine, Altmüller, Janine, Maria Riedmayr, Lisa, Motameny, Susanne, Nürnberg, Gudrun, Nürnberg, Peter, Bolz, Hanno J.
發表在 Sci Rep (2017)

A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73

由 Eisenberger, Tobias, Di Donato, Nataliya, Decker, Christian, Delle Vedove, Andrea, Neuhaus, Christine, Nürnberg, Gudrun, Toliat, Mohammad, Nürnberg, Peter, Mürbe, Dirk, Bolz, Hanno Jörn
發表在 Genet Med (2018)

Splitting Schizophrenia: Periodic Catatonia–Susceptibility Locus on Chromosome 15q15

由 Stöber, Gerald, Saar, Kathrin, Rüschendorf, Franz, Meyer, Jobst, Nürnberg, Gudrun, Jatzke, Susanne, Franzek, Ernst, Reis, André, Lesch, Klaus-Peter, Wienker, Thomas F., Beckmann, Helmut
出版 2000

Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations

由 Elsayed, Solaf M, Heller, Raoul, Thoenes, Michaela, Zaki, Maha S, Swan, Daniel, Elsobky, Ezzat, Zühlke, Christine, Ebermann, Inga, Nürnberg, Gudrun, Nürnberg, Peter, Bolz, Hanno J
出版 2014

Ethnic-specific WRN mutations in South Asian Werner syndrome patients: potential founder effect in patients with Indian or Pakistani ancestry

由 Saha, Bidisha, Lessel, Davor, Nampoothiri, Sheela, Rao, Anuradha S, Hisama, Fuki M, Peter, Dincy, Bennett, Chris, Nürnberg, Gudrun, Nürnberg, Peter, Martin, George M, Kubisch, Christian, Oshima, Junko
出版 2013

Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defects

由 Arélin, Maria, Schulze, Bernt, Müller-Myhsok, Bertram, Horn, Denise, Diers, Alexander, Uhlenberg, Birgit, Nürnberg, Peter, Nürnberg, Gudrun, Becker, Christian, Mundlos, Stefan, Lindner, Tom H, Sperling, Karl, Hoffmann, Katrin
出版 2013

Diaphragmatic Spinal Muscular Atrophy with Respiratory Distress Is Heterogeneous, and One Form Is Linked to Chromosome 11q13-q21

由 Grohmann, Katja, Wienker, Thomas F., Saar, Kathrin, Rudnik-Schöneborn, Sabine, Stoltenburg-Didinger, Gisela, Rossi, Rainer, Novelli, Giuseppe, Nürnberg, Gudrun, Pfeufer, Arne, Wirth, Brunhilde, Reis, André, Zerres, Klaus, Hübner, Christoph
出版 1999

A large duplication involving the IHH locus mimics acrocallosal syndrome

由 Yuksel-Apak, Memnune, Bögershausen, Nina, Pawlik, Barbara, Li, Yun, Apak, Selcuk, Uyguner, Oya, Milz, Esther, Nürnberg, Gudrun, Karaman, Birsen, Gülgören, Ayan, Grzeschik, Karl-Heinz, Nürnberg, Peter, Kayserili, Hülya, Wollnik, Bernd
出版 2012

A Novel Large In-Frame Deletion within the CACNA1F Gene Associates with a Cone-Rod Dystrophy 3-Like Phenotype

由 Hauke, Jan, Schild, Andrea, Neugebauer, Antje, Lappa, Alexandra, Fricke, Julia, Fauser, Sascha, Rösler, Stefanie, Pannes, Andrea, Zarrinnam, Dirk, Altmüller, Janine, Motameny, Susanne, Nürnberg, Gudrun, Nürnberg, Peter, Hahnen, Eric, Beck, Bodo B.
出版 2013

Loss of Corneodesmosin Leads to Severe Skin Barrier Defect, Pruritus, and Atopy: Unraveling the Peeling Skin Disease

由 Oji, Vinzenz, Eckl, Katja-Martina, Aufenvenne, Karin, Nätebus, Marc, Tarinski, Tatjana, Ackermann, Katharina, Seller, Natalia, Metze, Dieter, Nürnberg, Gudrun, Fölster-Holst, Regina, Schäfer-Korting, Monika, Hausser, Ingrid, Traupe, Heiko, Hennies, Hans Christian
出版 2010

A Truncating Mutation of CEP135 Causes Primary Microcephaly and Disturbed Centrosomal Function

由 Hussain, Muhammad Sajid, Baig, Shahid Mahmood, Neumann, Sascha, Nürnberg, Gudrun, Farooq, Muhammad, Ahmad, Ilyas, Alef, Thomas, Hennies, Hans Christian, Technau, Martin, Altmüller, Janine, Frommolt, Peter, Thiele, Holger, Noegel, Angelika Anna, Nürnberg, Peter
出版 2012

Familial Hemophagocytic Lymphohistiocytosis Type 5 (FHL-5) Is Caused by Mutations in Munc18-2 and Impaired Binding to Syntaxin 11

由 zur Stadt, Udo, Rohr, Jan, Seifert, Wenke, Koch, Florian, Grieve, Samantha, Pagel, Julia, Strauß, Julia, Kasper, Brigitte, Nürnberg, Gudrun, Becker, Christian, Maul-Pavicic, Andrea, Beutel, Karin, Janka, Gritta, Griffiths, Gillian, Ehl, Stephan, Hennies, Hans Christian
出版 2009